Table 3:
Distribution of β-thalassemia mutations in some Iran Provinces. Del; Deletion. Cd; Codon
Mutation type | Kurdestan (%) (Ref: 14) | Bushehr (%) (Ref:15) | Lorestan (%) (Ref:16) | Eastern Azerbaijan (%)(Ref:17) | Western Azerbaijan (%) (Ref:18) | Sistan-Baluchistan (%) (Ref:11) | Sari (%) (Ref:19) | Kerman (%) |
---|---|---|---|---|---|---|---|---|
IVSI-5 | 1(1.52) | 16(7.69) | 6(4.67) | 4(2.6) | 0.8 | 33.3(76.5) | 6(7.5) | 172(66.2) |
IVSII-I | 21(31.81) | 27(12.98) | 36(27.69) | 48(32) | 50.7 | 6(1.4) | 55(68.7) | 16(6) |
Fr 8–9 | 9(13.62) | 17(8.17) | 14(10.76) | 28(18.67) | 16 | 16(3.7) | 5(6.3) | 14(4.9) |
IVSI-6 | 1(1.52) | 3(1.44) | − | − | 0.8 | − | − | 9(3.4) |
Cd 15 | − | − | − | − | − | − | − | 7(2.6) |
Cd 44 | 3(4.55) | − | 1(0.76) | − | 9.3 | 3(0.7) | − | 5(1.9) |
IVSI-110 | 1(1.52) | 12(5.77) | 15(11.53) | 24(16) | 5.3 | − | − | 5(1.9) |
Cd39 | 3(4.55) | 7(3.36) | − | − | − | 6(1.4) | 1(1.2) | 4(1.5) |
Cd 8 | 4(6.06) | − | − | − | − | − | 2(2.5) | 4(1.5) |
Cd30 | − | 7(3.36) | − | 8(5.34) | 2.7 | − | 3(3.8) | 4(1.5) |
Cd36/37 | 1(1.52) | − | 44(33.84) | − | − | 1(0.2) | − | 3(1.1) |
619 bp del | − | − | − | − | − | − | − | 3(1.1) |
Cd5 | − | 5(2.4) | 1(0.76) | − | − | 2(0.5) | 2(2.5) | 2(0.8) |
Cd 41–42 | − | − | − | − | − | − | − | 2(0.8) |
Bnt30 (T-A) | − | − | − | − | − | − | − | 1(0.3) |
IVSI-I | 8(12.1) | 19(9.13) | − | 34(22.67) | − | 3(0.7) | 1(1.2) | 1(0.3) |
IVSII-745 | − | 7(3.36) | 2(4.67) | − | − | 1(0.2) | 2(2.5) | − |
IVSI(25bp del) | − | 50(24.04) | 1(0.76) | − | − | 3(0.7) | 3(3.8) | 2(0.8) |
−88(C>T) | − | − | − | − | − | 3(0.7) | − | − |
Unknown | 14(21.12) | 38(18.3) | 10(7.63) | − | − | 58(13.3) | − | 9(3.4) |
Total | 66 | 208 | 130 | 144 | 150 | 435 | 80 | 266 |